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Giant cell lesions in noonan syndrome: case report and review of the literature Bufalino A; Carrera M; Carlos R; Coletta RDHead Neck Pathol 2010[Jun]; 4 (2): 174-7Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a rare condition with phenotypic overlap with Noonan syndrome (NS). Once thought to be a specific and separate entity, it is now suggested to be a variant of the NS spectrum. We report a patient with classical cardinal features of NS, including short stature, mild ptosis, hypertelorism, down-slating palpebral fissures, low-set and posteriorly angulated ears, short neck, pectus excavatum, widely spaced nipples and cryptochidism, which were associated with bilateral central giant cell lesions in the mandible and germ-line mutation (C218T, Thr73Ile) in the exon 3 of the PTPN11 gene. The similar clinical and genetic aspects support the observation that NS/MGCLS is a variant of NS and giant cell lesions are an integrant part of this disorder.|Child[MESH]|Germ-Line Mutation[MESH]|Giant Cells/*pathology[MESH]|Humans[MESH]|Male[MESH]|Mandible/*pathology[MESH]|Noonan Syndrome/genetics/*pathology[MESH]|Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics[MESH] |
